Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
About your search

DNAJB11 and polycystic kidney disease are reported together in 1 article.

HGNC
HGNC:14889
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
66articles
66mentions
12co-reported genes shown
Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

Publications

1 records shown · first 60

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

PMID 31079206 | DOI 10.1007/s00467-019-04267-x · Pediatric nephrology (Berlin, Germany) · 2019 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneDNAJB11“Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD).”0.98hgnc_dict_v1
phenotypepolycystic kidney disease“Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.”0.98phenotype_alias_lexicon_v2
genePKD1“Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.”0.98hgnc_dict_v1
genePKD2“Pathogenic variants in two major genes, PKD1 and PKD2, and two rarer genes, GANAB and DNAJB11, cause autosomal dominant PKD (ADPKD).”0.98hgnc_dict_v1